| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LOC400499_chr16_11367015_11532247 | 11414425 | G | A | stop_gained | HIGH | HG02451.hp1 HG02723.hp1 |
a0025 | a0025c0184a0025c0185 | a0025c0184t0004a0025c0185t0002 | a0025c0184t0004g0288 a0025c0185t0002g0168 |
2 | 308 | 0.0065 | 0 | c.667 others(4): Show |
p.Arg others(5): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 44/67 | 6748/10754 | 6676/9963 | 2226/3320 | chr16 | TogoVar | |||
| LONP1_chr19_5686834_5725146 | 5694531 | T | A | stop_gained | HIGH | NA18954.hp1 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0267 | 1 | 384 | 0.0026 | 0 | c.217 others(4): Show |
p.Lys others(4): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 15/18 | 2190/3092 | 2176/2880 | 726/959 | chr19 | TogoVar | |||
| LONP1_chr19_5686834_5725146 | 5694532 | G | C | stop_gained | HIGH | NA18954.hp1 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0267 | 1 | 384 | 0.0026 | 0 | c.217 others(4): Show |
p.Tyr others(4): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 15/18 | 2189/3092 | 2175/2880 | 725/959 | chr19 | TogoVar | |||
| LONP1_chr19_5686834_5725146 | 5694548 | A | T | stop_gained | HIGH | NA18954.hp1 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0267 | 1 | 384 | 0.0026 | 0 | c.215 others(4): Show |
p.Leu others(4): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 15/18 | 2173/3092 | 2159/2880 | 720/959 | chr19 | TogoVar | |||
| LOXL4_chr10_98242690_98273194 | 98252462 | G | T | stop_gained | HIGH | HG02602.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0121 | 1 | 436 | 0.0023 | 0 | c.184 others(4): Show |
p.Tyr others(4): Show |
LOXL4 | ENSG00000138131.4 | transcript | ENST00000260702.4 | protein_coding | 12/15 | 1937/3597 | 1842/2271 | 614/756 | chr10 | TogoVar | |||
| LPA_chr6_160526482_160669275 | 160644847 | G | GCATTTGG others(38815): Show |
frameshift_variant others(2): Show |
HIGH | HG02818.hp2 | a0019 | a0019c0054 | a0019c0054t0001 | a0019c0054t0001g0111 | 1 | 146 | 0.0068 | 38822 | c.550 others(38829): Show |
p.Ala others(5): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 4/39 | 611/6431 | 550/6123 | 184/2040 | chr6 | TogoVar | |||
| LPIN3_chr20_41335821_41365582 | 41354711 | C | T | stop_gained | HIGH | HG01993.hp2 | a0013 | a0013c0019 | a0013c0019t0003 | a0013c0019t0003g0003 | 1 | 402 | 0.0025 | 0 | c.159 others(4): Show |
p.Arg others(4): Show |
LPIN3 | ENSG00000132793.12 | transcript | ENST00000373257.8 | protein_coding | 12/20 | 1784/4462 | 1594/2556 | 532/851 | chr20 | TogoVar | |||
| LPL_chr8_19934253_19972259 | 19962213 | C | G | stop_gained | HIGH | HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show |
a0002a0007 | a0002c0003a0002c0013a0007c0016 | a0002c0003t0001a0002c0003t0004a0002c0003t0025others(2): Show | a0002c0003t0001g0258 a0002c0003t0004g0005 a0002c0003t0004g0013 others(21): Show |
34 | 382 | 0.0890 | 0 | c.142 others(4): Show |
p.Ser others(4): Show |
LPL | ENSG00000175445.17 | transcript | ENST00000650287.1 | protein_coding | 9/10 | 1609/3565 | 1421/1428 | 474/475 | chr8 | TogoVar | |||
| LRCOL1_chr12_132598151_132615582 | 132604713 | C | T | stop_gained | HIGH | HG01928.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0089 | 1 | 388 | 0.0026 | 0 | c.224 others(3): Show |
p.Trp others(3): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 3/6 | 497/1004 | 224/480 | 75/159 | chr12 | TogoVar | |||
| LRP1_chr12_57123483_57218361 | 57192930 | C | A | stop_gained | HIGH | HG03669.hp1 | a0012 | a0012c0061 | a0012c0061t0001 | a0012c0061t0001g0086 | 1 | 274 | 0.0036 | 0 | c.751 others(4): Show |
p.Cys others(5): Show |
LRP1 | ENSG00000123384.14 | transcript | ENST00000243077.8 | protein_coding | 45/89 | 7997/14923 | 7515/13635 | 2505/4544 | chr12 | TogoVar | |||
| LRR1_chr14_49593940_49619672 | 49608102 | C | T | stop_gained | HIGH | HG01257.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0013 | 1 | 310 | 0.0032 | 0 | c.985 others(3): Show |
p.Arg others(4): Show |
LRR1 | ENSG00000165501.17 | transcript | ENST00000298288.11 | protein_coding | 3/4 | 1066/1502 | 985/1245 | 329/414 | chr14 | TogoVar | |||
| LRRC27_chr10_132327193_132386508 | 132355821 | C | T | stop_gained | HIGH | HG02630.hp1 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0187 | 1 | 288 | 0.0035 | 0 | c.110 others(4): Show |
p.Arg others(4): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/11 | 1217/7971 | 1105/1593 | 369/530 | chr10 | TogoVar | |||
| LRRC66_chr4_51988652_52025363 | 52017360 | C | T | stop_gained | HIGH | NA18955.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0083 | 1 | 334 | 0.0030 | 0 | c.254 others(3): Show |
p.Trp others(3): Show |
LRRC66 | ENSG00000188993.4 | transcript | ENST00000682860.1 | protein_coding | 2/5 | 319/3435 | 254/2643 | 85/880 | chr4 | TogoVar | |||
| LRRC9_chr14_59915144_60071817 | 60008141 | G | A | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 |
a0005 | a0005c0011 | a0005c0011t0003a0005c0011t0006 | a0005c0011t0003g0211 a0005c0011t0006g0212 |
2 | 320 | 0.0063 | 0 | c.311 others(4): Show |
p.Trp others(5): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 23/33 | 3276/8103 | 3113/4485 | 1038/1494 | chr14 | TogoVar | |||
| LRRK1_chr15_100914357_101083257 | 101051741 | C | CACTCATG others(8): Show |
stop_gained others(1): Show |
HIGH | NA18977.hp1 | a0026 | a0026c0116 | a0026c0116t0069 | a0026c0116t0069g0261 | 1 | 336 | 0.0030 | 15 | c.347 others(24): Show |
p.Gln others(30): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 24/34 | 3703/15674 | 3486/6048 | 1162/2015 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
| LTV1_chr6_143838338_143868812 | 143860480 | G | T | stop_gained | HIGH | NA18971.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0013 | 1 | 412 | 0.0024 | 0 | c.850 others(3): Show |
p.Glu others(4): Show |
LTV1 | ENSG00000135521.9 | transcript | ENST00000367576.6 | protein_coding | 7/11 | 990/1853 | 850/1428 | 284/475 | chr6 | TogoVar | |||
| LUZP1_chr1_23079030_23173856 | 23088933 | G | A | stop_gained | HIGH | NA18964.hp2 NA19007.hp1 |
a0011 | a0011c0012 | a0011c0012t0015 | a0011c0012t0015g0247 a0011c0012t0015g0248 |
2 | 320 | 0.0063 | 0 | c.319 others(4): Show |
p.Arg others(5): Show |
LUZP1 | ENSG00000169641.15 | transcript | ENST00000302291.9 | protein_coding | 4/4 | 3509/8412 | 3193/3231 | 1065/1076 | chr1 | TogoVar | |||
| LVRN_chr5_115957475_116032606 | 116012405 | G | A | stop_gained | HIGH | HG02970.hp1 NA19240.hp2 |
a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0243 a0009c0016t0002g0244 |
2 | 416 | 0.0048 | 0 | c.227 others(4): Show |
p.Trp others(4): Show |
LVRN | ENSG00000172901.21 | transcript | ENST00000357872.9 | protein_coding | 15/20 | 2422/4604 | 2279/2973 | 760/990 | chr5 | TogoVar | |||
| LY75_chr2_159798355_159909756 | 159858447 | C | T | stop_gained | HIGH | HG01109.hp2 | a0029 | a0029c0056 | a0029c0056t0001 | a0029c0056t0001g0247 | 1 | 328 | 0.0030 | 0 | c.229 others(4): Show |
p.Trp others(4): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 16/35 | 2372/6932 | 2298/5169 | 766/1722 | chr2 | TogoVar | |||
| LY96_chr8_73986392_74034079 | 73991550 | C | G | stop_gained | HIGH | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 312 | 0.0032 | 0 | c.108 others(3): Show |
p.Tyr others(3): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | 159/559 | 108/483 | 36/160 | chr8 | TogoVar | |||
| LY9_chr1_160791174_160833255 | 160814452 | G | T | stop_gained | HIGH | NA18953.hp2 NA18987.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0010 a0006c0007t0001g0122 |
2 | 392 | 0.0051 | 0 | c.763 others(3): Show |
p.Glu others(4): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 4/10 | 777/2421 | 763/1968 | 255/655 | chr1 | TogoVar | |||
| LYG2_chr2_99237246_99260666 | 99245402 | G | A | stop_gained | HIGH | HG02083.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0297 | 1 | 424 | 0.0024 | 0 | c.241 others(3): Show |
p.Gln others(3): Show |
LYG2 | ENSG00000185674.10 | transcript | ENST00000333017.7 | protein_coding | 5/7 | 448/964 | 241/639 | 81/212 | chr2 | TogoVar | |||
| LYPD2_chr8_142745150_142757532 | 142750291 | G | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 | 2 | 394 | 0.0051 | 0 | c.370 others(3): Show |
p.Arg others(4): Show |
LYPD2 | ENSG00000197353.4 | transcript | ENST00000359228.4 | protein_coding | 3/3 | 451/592 | 370/378 | 124/125 | chr8 | TogoVar | |||
| LYPD8_chr1_248734415_248760759 | 248751042 | C | CAAGCACT others(117): Show |
frameshift_variant others(1): Show |
HIGH | HG02559.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0206 | 1 | 372 | 0.0027 | 124 | c.-49 others(133): Show |
p.Val others(4): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 3/7 | 291/1162 | 39/714 | 13/237 | chr1 | TogoVar | |||
| LYSET_chr14_93180317_93193463 | 93186451 | T | A | stop_gained | HIGH | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0016 | 1 | 428 | 0.0023 | 0 | c.272 others(3): Show |
p.Leu others(3): Show |
LYSET | ENSG00000153485.6 | transcript | ENST00000415050.3 | protein_coding | 2/2 | 361/2373 | 272/492 | 91/163 | chr14 | TogoVar | |||
| LYZL4_chr3_42392083_42415610 | 42397312 | G | A | stop_gained | HIGH | NA19078.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0121 | 1 | 394 | 0.0025 | 0 | c.394 others(3): Show |
p.Gln others(4): Show |
LYZL4 | ENSG00000157093.9 | transcript | ENST00000287748.8 | protein_coding | 5/5 | 680/909 | 394/441 | 132/146 | chr3 | TogoVar | |||
| LZTR1_chr22_20977297_21004032 | 20993977 | G | A | stop_gained | HIGH | HG00323.hp1 | a0002 | a0002c0018 | a0002c0018t0003 | a0002c0018t0003g0088 | 1 | 444 | 0.0023 | 0 | c.140 others(4): Show |
p.Trp others(4): Show |
LZTR1 | ENSG00000099949.22 | transcript | ENST00000646124.2 | protein_coding | 13/21 | 1482/4282 | 1407/2523 | 469/840 | chr22 | TogoVar | |||
| MADD_chr11_47265133_47335031 | 47285079 | C | T | stop_gained | HIGH | HG00639.hp2 HG01106.hp2 HG02257.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0177 a0006c0009t0001g0178 a0006c0009t0001g0187 |
3 | 342 | 0.0088 | 0 | c.229 others(4): Show |
p.Arg others(4): Show |
MADD | ENSG00000110514.20 | transcript | ENST00000706887.1 | protein_coding | 13/37 | 2498/6036 | 2296/4953 | 766/1650 | chr11 | TogoVar | |||
| MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(16): Show |
187 | 286 | 0.6538 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | |||
| MAGEB18_chrX_26133343_26145736 | 26139272 | C | G | stop_gained | HIGH | NA18906.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0001 | 1 | 324 | 0.0031 | 0 | c.287 others(3): Show |
p.Ser others(3): Show |
MAGEB18 | ENSG00000176774.6 | transcript | ENST00000325250.2 | protein_coding | 2/3 | 474/1812 | 287/1032 | 96/343 | chrX | TogoVar | |||
| MAGEB18_chrX_26133343_26145736 | 26139290 | G | A | stop_gained | HIGH | NA18906.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0001 | 1 | 324 | 0.0031 | 0 | c.305 others(3): Show |
p.Trp others(4): Show |
MAGEB18 | ENSG00000176774.6 | transcript | ENST00000325250.2 | protein_coding | 2/3 | 492/1812 | 305/1032 | 102/343 | chrX | TogoVar | |||
| MAGEC2_chrX_142197342_142210290 | 142202910 | C | A | stop_gained | HIGH | HG02523.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0026 | 1 | 329 | 0.0030 | 0 | c.107 others(4): Show |
p.Glu others(4): Show |
MAGEC2 | ENSG00000046774.10 | transcript | ENST00000247452.4 | protein_coding | 3/3 | 1426/1994 | 1078/1122 | 360/373 | chrX | TogoVar | |||
| MAGEC3_chrX_141833316_141902832 | 141881464 | C | T | stop_gained | HIGH | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(1): Show |
a0009 | a0009c0019a0009c0020 | a0009c0019t0001a0009c0020t0001 | a0009c0019t0001g0217 a0009c0019t0001g0251 a0009c0020t0001g0206 others(1): Show |
4 | 296 | 0.0135 | 0 | c.577 others(3): Show |
p.Gln others(4): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 4/8 | 577/1932 | 577/1932 | 193/643 | chrX | TogoVar | |||
| MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0005a0007 | a0002c0002a0002c0003a0002c0009others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0009t0001others(3): Show | a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0009t0001g0000 others(3): Show |
123 | 275 | 0.4473 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | |||
| MAGEF1_chr3_184705364_184717064 | 184711722 | G | A | stop_gained | HIGH | HG02818.hp2 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0000 | 1 | 454 | 0.0022 | 0 | c.100 others(3): Show |
p.Gln others(3): Show |
MAGEF1 | ENSG00000177383.5 | transcript | ENST00000317897.5 | protein_coding | 1/1 | 343/1701 | 100/924 | 34/307 | chr3 | TogoVar | |||
| MAMDC4_chr9_136847346_136865799 | 136853203 | C | T | stop_gained | HIGH | HG02895.hp2 | a0021 | a0021c0043 | a0021c0043t0001 | a0021c0043t0001g0001 | 1 | 348 | 0.0029 | 0 | c.148 others(3): Show |
p.Gln others(3): Show |
MAMDC4 | ENSG00000177943.14 | transcript | ENST00000317446.7 | protein_coding | 2/27 | 219/3681 | 148/3414 | 50/1137 | chr9 | TogoVar | |||
| MAN2A2_chr15_90898302_90927579 | 90909364 | C | T | stop_gained | HIGH | HG01081.hp2 | a0001 | a0001c0034 | a0001c0034t0029 | a0001c0034t0029g0052 | 1 | 414 | 0.0024 | 0 | c.123 others(4): Show |
p.Gln others(4): Show |
MAN2A2 | ENSG00000196547.15 | transcript | ENST00000559717.6 | protein_coding | 9/23 | 1383/6394 | 1234/3453 | 412/1150 | chr15 | TogoVar | |||
| MAN2C1_chr15_75350792_75373607 | 75356818 | G | A | stop_gained | HIGH | NA19063.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0047 | 1 | 380 | 0.0026 | 0 | c.263 others(4): Show |
p.Arg others(4): Show |
MAN2C1 | ENSG00000140400.18 | transcript | ENST00000267978.10 | protein_coding | 22/26 | 2656/3261 | 2632/3123 | 878/1040 | chr15 | TogoVar | |||
| MANEAL_chr1_37788847_37806133 | 37799648 | C | A | stop_gained | HIGH | HG03209.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0034 | 1 | 436 | 0.0023 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
MANEAL | ENSG00000185090.15 | transcript | ENST00000373045.11 | protein_coding | 4/4 | 1155/2640 | 819/1374 | 273/457 | chr1 | TogoVar | |||
| MANEAL_chr1_37788847_37806133 | 37799720 | C | G | stop_gained | HIGH | HG03209.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0034 | 1 | 436 | 0.0023 | 0 | c.891 others(3): Show |
p.Tyr others(4): Show |
MANEAL | ENSG00000185090.15 | transcript | ENST00000373045.11 | protein_coding | 4/4 | 1227/2640 | 891/1374 | 297/457 | chr1 | TogoVar | |||
| MANEAL_chr1_37788847_37806133 | 37799994 | C | T | stop_gained | HIGH | HG03209.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0034 | 1 | 436 | 0.0023 | 0 | c.116 others(4): Show |
p.Gln others(4): Show |
MANEAL | ENSG00000185090.15 | transcript | ENST00000373045.11 | protein_coding | 4/4 | 1501/2640 | 1165/1374 | 389/457 | chr1 | TogoVar | |||
| MANSC1_chr12_12321056_12355242 | 12330917 | G | GTCTATGG others(9): Show |
frameshift_variant others(1): Show |
HIGH | NA18991.hp2 | a0007 | a0007c0011 | a0007c0011t0123 | a0007c0011t0123g0223 | 1 | 320 | 0.0031 | 16 | c.405 others(23): Show |
p.Pro others(5): Show |
MANSC1 | ENSG00000111261.14 | transcript | ENST00000535902.6 | protein_coding | 4/4 | 670/5532 | 405/1296 | 135/431 | chr12 | TogoVar | |||
| MANSC4_chr12_27757427_27785236 | 27763139 | C | A | stop_gained | HIGH | HG03239.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0133 | 1 | 404 | 0.0025 | 0 | c.622 others(3): Show |
p.Glu others(4): Show |
MANSC4 | ENSG00000205693.4 | transcript | ENST00000381273.4 | protein_coding | 4/4 | 955/1667 | 622/1023 | 208/340 | chr12 | TogoVar | |||
| MAP10_chr1_232800416_232814929 | 232806206 | A | T | stop_gained | HIGH | NA18974.hp1 | a0018 | a0018c0021 | a0018c0021t0015 | a0018c0021t0015g0000 | 1 | 444 | 0.0023 | 0 | c.757 others(3): Show |
p.Lys others(4): Show |
MAP10 | ENSG00000212916.6 | transcript | ENST00000418460.4 | protein_coding | 1/1 | 791/4514 | 757/2718 | 253/905 | chr1 | TogoVar | |||
| MAP3K19_chr2_134959491_135052447 | 134987732 | A | T | stop_gained | HIGH | NA18990.hp2 | a0023 | a0023c0022 | a0023c0022t0003 | a0023c0022t0003g0303 | 1 | 332 | 0.0030 | 0 | c.114 others(4): Show |
p.Tyr others(4): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 10/13 | 1826/5032 | 1140/3987 | 380/1328 | chr2 | TogoVar | |||
| MAP3K4_chr6_160986769_161122380 | 161115245 | G | GAGTGACC others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp1 | a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0305 | 1 | 340 | 0.0029 | 10 | c.475 others(19): Show |
p.Met others(6): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 26/27 | 4925/5500 | 4762/4827 | 1588/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| MAP3K6_chr1_27350184_27371961 | 27358814 | A | C | stop_gained | HIGH | NA18965.hp1 | a0020 | a0020c0030 | a0020c0030t0001 | a0020c0030t0001g0078 | 1 | 410 | 0.0024 | 0 | c.247 others(4): Show |
p.Tyr others(4): Show |
MAP3K6 | ENSG00000142733.18 | transcript | ENST00000357582.3 | protein_coding | 19/29 | 2842/4438 | 2478/3867 | 826/1288 | chr1 | TogoVar | |||
| MAP3K7CL_chr21_29125644_29180887 | 29174878 | C | T | stop_gained | HIGH | HG02132.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0001 | 1 | 404 | 0.0025 | 0 | c.415 others(3): Show |
p.Gln others(4): Show |
MAP3K7CL | ENSG00000156265.17 | transcript | ENST00000399928.6 | protein_coding | 5/5 | 734/1743 | 415/429 | 139/142 | chr21 | TogoVar | |||
| MAP9_chr4_155337658_155381965 | 155347875 | G | A | stop_gained | HIGH | NA18952.hp1 NA19060.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0043 | 2 | 414 | 0.0048 | 0 | c.185 others(4): Show |
p.Arg others(4): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 14/14 | 2111/7328 | 1852/1944 | 618/647 | chr4 | TogoVar | |||
| MAPK15_chr8_143711349_143727458 | 143719150 | C | A | stop_gained | HIGH | HG01192.hp1 HG03453.hp1 HG03579.hp2 |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0004 | 3 | 396 | 0.0076 | 0 | c.575 others(3): Show |
p.Ser others(4): Show |
MAPK15 | ENSG00000181085.15 | transcript | ENST00000338033.9 | protein_coding | 6/14 | 604/1871 | 575/1635 | 192/544 | chr8 | TogoVar |